TY  - JOUR
AV  - public
SN  - 0197-4580
SP  - 1850.e1 
ID  - eprints2910
Y1  - 2012///
TI  - Screening for C9ORF72 repeat expansion in FTLD
A1  - Ferrari, Raffaele
A1  - Mok, Kin
A1  - Moreno, Jorge H.
A1  - Cosentino, Stephanie
A1  - Goldman, Jill
A1  - Pietrini, Pietro
A1  - Mayeux, Richard
A1  - Tierney, Michael C.
A1  - Kapogiannis, Dimitrios
A1  - Jicha, Gregory A.
A1  - Murrell, Jill R.
A1  - Ghetti, Bernardino
A1  - Wassermann, Eric M.
A1  - Grafman, Jordan
A1  - Hardy, John
A1  - Huey, Edward D.
A1  - Momeni, Parastoo
UR  - http://www.sciencedirect.com/science/article/pii/S0197458012001625
KW  - FTLD
KW  -  bv-FTD
KW  -  FTD-ALS
KW  -  C9ORF72
KW  -  GRN
KW  -  PSEN-2
KW  -  Alzheimer's disease
N2  - In the present study we aimed to determine the prevalence of {C9ORF72} {GGGGCC} hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls. We identified the hexanucleotide repeat, in the pathogenic range, in 4 (2 bv-frontotemporal dementia (FTD) and 2 FTD-amyotrophic lateral sclerosis ALS) out of 53 patients and 1 neurologically normal control. Interestingly, 2 of the \{C9ORF72\} expansion carriers also carried 2 novel missense mutations in \{GRN\} (Y294C) and in PSEN-2(I146V). Further, 1 of the \{C9ORF72\} expansion carriers, for whom pathology was available, showed amyloid plaques and tangles in addition to \{TAR\} (trans-activation response) DNA-binding protein (TDP)-43 pathology. In summary, our findings suggest that the hexanucleotide expansion is probably associated with ALS, FTD, or FTD-ALS and occasional comorbid conditions such as Alzheimer's disease. These findings are novel and need to be cautiously interpreted and most importantly replicated in larger numbers of samples.
JF  - Neurobiology of Aging
IS  - 8
VL  - 33
PB  - Elsevier
EP  -  1850.e11
ER  -